Incidental Mutation 'IGL01374:Slc5a3'
ID |
78649 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc5a3
|
Ensembl Gene |
ENSMUSG00000089774 |
Gene Name |
solute carrier family 5 (inositol transporters), member 3 |
Synonyms |
Smit1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01374
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
91855210-91884361 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 91874006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 21
(M21K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109608
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047429]
[ENSMUST00000113975]
[ENSMUST00000131098]
[ENSMUST00000232677]
|
AlphaFold |
Q9JKZ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047429
|
SMART Domains |
Protein: ENSMUSP00000037631 Gene: ENSMUSG00000039680
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_S6
|
3 |
95 |
7.2e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113975
AA Change: M21K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000109608 Gene: ENSMUSG00000089774 AA Change: M21K
Domain | Start | End | E-Value | Type |
Pfam:SSF
|
39 |
477 |
1.3e-163 |
PFAM |
transmembrane domain
|
511 |
533 |
N/A |
INTRINSIC |
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
transmembrane domain
|
696 |
715 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131098
|
SMART Domains |
Protein: ENSMUSP00000139098 Gene: ENSMUSG00000089774
Domain | Start | End | E-Value | Type |
Pfam:SSF
|
1 |
142 |
3.4e-58 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232222
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232677
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after birth due to respiratory failure and abnormal development of peripheral nerves. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,747,830 (GRCm39) |
H54R |
probably benign |
Het |
Acsl6 |
T |
C |
11: 54,229,245 (GRCm39) |
V359A |
probably damaging |
Het |
Aldh3a2 |
C |
T |
11: 61,139,828 (GRCm39) |
V435I |
probably benign |
Het |
Atm |
A |
T |
9: 53,443,024 (GRCm39) |
S80T |
possibly damaging |
Het |
Atp8b4 |
A |
T |
2: 126,225,577 (GRCm39) |
|
probably benign |
Het |
Atxn1 |
T |
C |
13: 45,721,903 (GRCm39) |
|
probably benign |
Het |
Chd3 |
T |
C |
11: 69,250,806 (GRCm39) |
E641G |
probably damaging |
Het |
Clpb |
T |
C |
7: 101,422,335 (GRCm39) |
V346A |
probably damaging |
Het |
Ctnnbl1 |
T |
A |
2: 157,678,613 (GRCm39) |
|
probably null |
Het |
Cyp2b19 |
C |
T |
7: 26,458,504 (GRCm39) |
P73L |
probably benign |
Het |
Dcc |
T |
C |
18: 71,507,624 (GRCm39) |
Y916C |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,941,647 (GRCm39) |
N180S |
probably damaging |
Het |
Foxi1 |
A |
C |
11: 34,157,984 (GRCm39) |
C14G |
probably damaging |
Het |
Fut4 |
G |
T |
9: 14,662,786 (GRCm39) |
F169L |
probably benign |
Het |
Grip1 |
T |
C |
10: 119,885,273 (GRCm39) |
S748P |
probably benign |
Het |
Hnrnpr |
T |
C |
4: 136,054,729 (GRCm39) |
|
probably benign |
Het |
Ifnz |
G |
A |
4: 88,701,578 (GRCm39) |
|
probably benign |
Het |
Krt28 |
A |
G |
11: 99,262,294 (GRCm39) |
V232A |
probably benign |
Het |
Lyar |
C |
A |
5: 38,385,391 (GRCm39) |
|
probably null |
Het |
Manba |
G |
A |
3: 135,260,541 (GRCm39) |
W575* |
probably null |
Het |
Morc3 |
T |
A |
16: 93,641,101 (GRCm39) |
D44E |
probably damaging |
Het |
Mrc2 |
T |
A |
11: 105,238,469 (GRCm39) |
Y1205* |
probably null |
Het |
Myh2 |
A |
T |
11: 67,068,250 (GRCm39) |
T293S |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,523,788 (GRCm39) |
K564I |
possibly damaging |
Het |
Nuak1 |
A |
G |
10: 84,210,532 (GRCm39) |
S519P |
probably damaging |
Het |
Or12k5 |
T |
C |
2: 36,894,942 (GRCm39) |
H228R |
probably benign |
Het |
Or9m2 |
T |
C |
2: 87,820,892 (GRCm39) |
F146L |
probably benign |
Het |
Padi2 |
T |
A |
4: 140,660,496 (GRCm39) |
N325K |
probably damaging |
Het |
Pcdhb19 |
A |
T |
18: 37,631,042 (GRCm39) |
Y279F |
probably damaging |
Het |
Phldb1 |
A |
G |
9: 44,607,464 (GRCm39) |
L1247P |
probably damaging |
Het |
Rmdn3 |
A |
G |
2: 118,984,428 (GRCm39) |
V108A |
probably damaging |
Het |
Slc22a5 |
A |
G |
11: 53,758,490 (GRCm39) |
F437L |
probably benign |
Het |
Slc3a2 |
C |
T |
19: 8,690,701 (GRCm39) |
|
probably null |
Het |
Spink5 |
T |
A |
18: 44,122,471 (GRCm39) |
F312Y |
possibly damaging |
Het |
Stab1 |
T |
C |
14: 30,869,032 (GRCm39) |
Y1531C |
probably damaging |
Het |
Tln2 |
C |
A |
9: 67,169,205 (GRCm39) |
A433S |
probably damaging |
Het |
Usp24 |
C |
T |
4: 106,237,296 (GRCm39) |
L1076F |
possibly damaging |
Het |
Vmn2r117 |
T |
C |
17: 23,697,356 (GRCm39) |
Y112C |
possibly damaging |
Het |
Vmn2r16 |
C |
T |
5: 109,478,283 (GRCm39) |
L13F |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,874,857 (GRCm39) |
M707V |
probably benign |
Het |
Zmym4 |
A |
T |
4: 126,762,750 (GRCm39) |
F1358I |
probably damaging |
Het |
|
Other mutations in Slc5a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00832:Slc5a3
|
APN |
16 |
91,874,519 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01100:Slc5a3
|
APN |
16 |
91,876,110 (GRCm39) |
intron |
probably benign |
|
IGL01566:Slc5a3
|
APN |
16 |
91,874,465 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01615:Slc5a3
|
APN |
16 |
91,876,000 (GRCm39) |
nonsense |
probably null |
|
IGL02489:Slc5a3
|
APN |
16 |
91,874,593 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL03329:Slc5a3
|
APN |
16 |
91,874,348 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4449001:Slc5a3
|
UTSW |
16 |
91,874,702 (GRCm39) |
missense |
probably benign |
|
R0054:Slc5a3
|
UTSW |
16 |
91,874,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Slc5a3
|
UTSW |
16 |
91,874,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R0166:Slc5a3
|
UTSW |
16 |
91,874,581 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1022:Slc5a3
|
UTSW |
16 |
91,874,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R1024:Slc5a3
|
UTSW |
16 |
91,874,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R1102:Slc5a3
|
UTSW |
16 |
91,874,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Slc5a3
|
UTSW |
16 |
91,874,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1777:Slc5a3
|
UTSW |
16 |
91,874,644 (GRCm39) |
missense |
probably benign |
0.00 |
R1955:Slc5a3
|
UTSW |
16 |
91,874,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2068:Slc5a3
|
UTSW |
16 |
91,874,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R3787:Slc5a3
|
UTSW |
16 |
91,874,816 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4152:Slc5a3
|
UTSW |
16 |
91,874,696 (GRCm39) |
nonsense |
probably null |
|
R4651:Slc5a3
|
UTSW |
16 |
91,874,090 (GRCm39) |
missense |
probably benign |
0.26 |
R4944:Slc5a3
|
UTSW |
16 |
91,875,571 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5008:Slc5a3
|
UTSW |
16 |
91,874,169 (GRCm39) |
missense |
probably damaging |
0.96 |
R6058:Slc5a3
|
UTSW |
16 |
91,875,963 (GRCm39) |
missense |
probably benign |
0.00 |
R7459:Slc5a3
|
UTSW |
16 |
91,875,905 (GRCm39) |
missense |
probably benign |
|
R7544:Slc5a3
|
UTSW |
16 |
91,874,682 (GRCm39) |
missense |
probably benign |
0.00 |
R7843:Slc5a3
|
UTSW |
16 |
91,875,907 (GRCm39) |
missense |
probably benign |
|
R9432:Slc5a3
|
UTSW |
16 |
91,874,615 (GRCm39) |
missense |
probably benign |
0.00 |
R9501:Slc5a3
|
UTSW |
16 |
91,875,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-05 |